Literature DB >> 1972692

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene.

F K Trefz1, M Yoshino, A Nishiyori, F Aengeneyndt, B Schmidt-Mader, U Lichter-Konecki, D S Konecki.   

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Year:  1990        PMID： 1972692     DOI： 10.1007/bf00276336

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  9 in total

1.  Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Authors:  A S Lidsky; F D Ledley; A G DiLella; S C Kwok; S P Daiger; K J Robson; S L Woo
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

2.  Outcome of the patients detected by newborn screening in Japan.

Authors:  K Aoki; Y Wada
Journal:  Acta Paediatr Jpn       Date:  1988-08

3.  Phenylalaninaemia. Differential diagnosis.

Authors:  M E Blaskovics; G E Schaeffler; S Hack
Journal:  Arch Dis Child       Date:  1974-11       Impact factor: 3.791

4.  Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population.

Authors:  U Lichter-Konecki; M Schlotter; D S Konecki; S Labeit; S L Woo; F K Trefz
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

5.  Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors:  A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

6.  DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population.

Authors:  U Lichter-Konecki; M Schlotter; C Yaylak; M Ozgüç; T Coskun; I Ozalp; U Wendel; U Batzler; F K Trefz; D Konecki
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

7.  Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese.

Authors:  S H Chen; K J Hsiao; L H Lin; T T Liu; R B Tang; T S Su
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

8.  An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

Authors:  A G DiLella; J Marvit; K Brayton; S L Woo
Journal:  Nature       Date:  1987 May 28-Jun 3       Impact factor: 49.962

9.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132
  9 in total
  5 in total

Review 1.  Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.

Authors:  Yoshihiro Maruo; Masafumi Suzaki; Katsuyuki Matsui; Yu Mimura; Asami Mori; Haruo Shintaku; Yoshihiro Takeuchi
Journal:  World J Pediatr       Date:  2015-04-30       Impact factor: 2.764

Review 3.  The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors:  D S Konecki; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

4.  DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.

Authors:  U Lichter-Konecki; M Schlotter; D S Konecki
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

5.  Identification of a new missense mutation in Japanese phenylketonuric patients.

Authors:  B Goebel-Schreiner; R Schreiner
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  5 in total

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